Quality of life after diet liberalization in individuals with phenylketonuria treated with Pegvaliase [0.03%]
Pegvaliase治疗苯酮尿症患者的饮食限制放宽后的生存质量评估
Chiara Cazzorla,Giacomo Gaiga,Jessica Carretta et al.
Chiara Cazzorla et al.
Objective: To assess the impact of pegvaliase treatment on quality of life and individuals' perception of and satisfaction with therapy in Italian individuals with classical phenylketonuria (PKU) after diet liberalization...
POLG-related disorders: Clinical and molecular Spectrum in the Saudi population [0.03%]
线粒体DNA聚合酶γ缺陷病的临床和分子特征：沙特人群报告
Fuad Al Mutairi,Faisal Joueidi,Ziyad A Al Mutairi et al.
Fuad Al Mutairi et al.
Background: POLG-related disorders are a group of mitochondrial diseases caused by variants in the POLG gene, which is essential for mitochondrial DNA replication and repair. These disorders encompass a wide spectrum of c...
Body composition in adults with phenylketonuria: A 5 years follow-up study [0.03%]
苯酮尿症成人患者五年追踪身体组成变化研究
Bianca Fasolo Franceschetto,Yannick Moutapam-Ngamby-Adriaansen,Nathalie Tressel et al.
Bianca Fasolo Franceschetto et al.
This longitudinal study evaluated body composition in 24 early-treated adults with PKU using Dual-Energy X-ray Absorptiometry (DXA). At baseline, eutrophy, overweight, and obesity were found in 9, 9, and 6 patients, respectively. After 5 ye...
Impact of migalastat therapy on corneal deposits in a female with Fabry disease: A case report [0.03%]
米加拉司特治疗法布雷病女性患者角膜沉积物的影响：病例报告
Nicola Vitturi,Giorgia Gugelmo,Francesca Zanini et al.
Nicola Vitturi et al.
Fabry disease is a rare X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency, leading to globotriaosylceramide accumulation in multiple organs, including the eye, where corneal verticillata represents a typical sig...
Transient abnormal acylcarnitine profile in newborn screening mimicking multiple acyl-Coenzyme A dehydrogenase deficiency associated with maternal sertraline use [0.03%]
母亲使用舍曲林导致新生儿筛查中多种酰基辅酶A脱氢酶缺乏症的假阳性反应
Rebecca Barbetti,Kate Coleman,Louise Fraser et al.
Rebecca Barbetti et al.
Background: Multiple acyl-Coenzyme A dehydrogenase deficiency (MADD) is an inborn error of metabolism affecting fatty acid, amino acid and choline oxidation and is included in newborn screening in Australia. Recent report...
Effectiveness and tolerability of migalastat in adult Fabry disease: A single regional centre experience [0.03%]
米加拉司特治疗法布雷病的疗效和耐受性：单一地区中心的经验报告
Eamon P McCarron,Rajkumar Chinnadurai,Karolina M Stepien et al.
Eamon P McCarron et al.
Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficient α-galactosidase A (α-Gal) activity, leading to progressive renal, cardiac, and cerebrovascular involvement. Migalastat, an ora...
Somatic mosaicism in the δ-aminolevulinate dehydratase gene causing late-onset porphyria with erythroid-driven pathogenesis [0.03%]
血红素驱动的迟发型卟啉病伴有体细胞嵌合现象.delta-氨基乙酰丙酸脱水酶基因突变所致
Timofei Vizerov,Nina Demina,Rodion Ponomarev et al.
Timofei Vizerov et al.
δ-Aminolevulinate dehydratase deficiency porphyria (ADP) is an extremely rare autosomal recessive disorder, with only 12 previously reported cases. It is characterized by the accumulation of delta-aminolevulinic acid (ALA), which is associ...
Development of a quality control panel based on patient-derived immortalized B-Lymphoblastoid cell lines for thalassemia genotyping [0.03%]
基于患者衍生的永生化B淋巴母细胞系的血红蛋白病基因分型的质量控制面板的研发
Huiling Zhang,Liqiao Han,Yingyi Feng et al.
Huiling Zhang et al.
Background: Thalassemia diagnosis relies on precise genetic testing, which requires reliable quality control (QC) materials. Current options, such as limited clinical samples or synthetic DNA, lack both renewable supply a...
Prevalence and sociodemographic, clinical, and genetic characteristics of Fabry disease in north-central Chile, 2013-2023 [0.03%]
2013-2023年智利中部地区的法布雷病患病率及其社会人口学、临床和遗传特征
Sergio Royo Martínez,Mauricio Castillo-Montes,Fernando Molt et al.
Sergio Royo Martínez et al.
Background: Fabry disease (FD) is a rare genetic disorder linked to X chromosome, causing progressive multisystem involvement. Epidemiological data on FD are limited, both in Latin America and Chile. This study aimed to e...
DGUOK-related mitochondrial DNA depletion syndrome presenting with neonatal cholestasis without marked hyperlactatemia: A diagnostic pitfall [0.03%]
新生儿胆汁淤积但无明显高乳酸血症的DGUOK相关型线粒体DNA耗竭综合征：一种诊断陷阱
Moe Li,Hideo Sasai,Hiroaki Taniguchi et al.
Moe Li et al.
Mitochondrial DNA depletion syndrome (MTDPS) is a group of severe mitochondrial disorders caused by nuclear gene variants that affect mitochondrial DNA (mtDNA) replication and nucleotide synthesis. Deoxyguanosine kinase deficiency is one of...